Bhatia, KP;
Cociasu, I;
Sorbera, C;
Tuttolomondo, A;
Morgante, F;
Friedman, J;
(2021)
Commentary: Anderson-Fabry Disease: A Rare Cause of Levodopa-Responsive Early Onset Parkinsonism.
Movement Disorders Clinical Practice
, 8
(S1)
S35-S36.
10.1002/mdc3.13297.
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ANDERSON FABRY DISEASE A RARE CAUSE OF LEVODOPARESPONSIVE.pdf - Accepted Version Download (1MB) | Preview |
Abstract
This case had young onset parkinsonism beginning at age 45 mainly affecting the right side with foot dystonia and limb pain as an early and prominent feature.1 There was a family history of renal disease in one sister, stroke like episodes and dementia in another sister, and ischemic cardiac disease in the father. Single-photon emission computed tomography of the dopamine transporter showed bilateral reduced uptake and there was a good levodopa response and later development non-motor fluctuations. Although a number of parkinsonian conditions particularly genetic forms of young onset parkinsonism are in the differential, the patient also showed signs of renal (microalbuminuria) and cardiac (left ventricular hypertrophy) dysfunction which further narrowed the differential to conditions such as mitochondrial disease and neuronal inclusion body disease (though brain MRI did not show characteristic white matter changes). Given the severity of pain and renal involvement, Anderson-Fabry was considered as the most likely diagnosis. This x-linked lysosomal storage disease is caused by absent or minimal enzymatic activity of α-galactosidase and usually affects males in whom its fully penetrant but has been described rarely also to affect women.2 It is important to recognize this condition given the availability of treatment with enzyme replacement therapy (agalsidase alfa). The list of genetic parkinsonian conditions is increasing.2 Involvement of non-neurologic organ systems in patient or family members may offer clues to diagnosis. Anderson-Fabry disease specifically must be kept in mind in anyone with young onset parkinsonis
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